A framework for the investigation of rare genetic disorders in neuropsychiatry

Stephan J. Sanders, Mustafa Sahin, Joseph Hostyk, Audrey Thurm, Sebastien Jacquemont, Paul Avillach, Elise Douard, Christa L. Martin, Meera E. Modi, Andres Moreno-De-Luca, Armin Raznahan, Alan Anticevic, Ricardo Dolmetsch, Guoping Feng, Daniel H. Geschwind, David C. Glahn, David B. Goldstein, David H. Ledbetter, Jennifer G. Mulle, Sergiu P. PascaRodney Samaco, Jonathan Sebat, Anne Pariser, Thomas Lehner, Raquel E. Gur, Carrie E. Bearden

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.

Original languageEnglish (US)
Pages (from-to)1477-1487
Number of pages11
JournalNature Medicine
Issue number10
StatePublished - Oct 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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